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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hearing Impairment 24 (DFNB24, RDX) Neurosensory hearing loss Autosomal Recessive 11q22.3 Missense RDX 1732G>A Asp578Asn Amino Acid Substitution 0/Khan et al., 2007
Hearing Impairment 24 (DFNB24, RDX) Sensorineural hearing loss Autosomal Recessive 11q22.3 Insertion RDX 1404_1405insG Ala469fs*487 Frame shift mutation & PTC 0/Khan et al., 2007
Hearing Impairment 24 (DFNB24, RDX) Sensorineural hearing loss Autosomal Recessive 11q22.3 Nonsense RDX 463C>T Gln155* Premature Termination 0/Khan et al., 2007
Hearing Impairment 24 (DFNB24, RDX) Hearing loss Autosomal Recessive 11q22.3 Deletion RDX 1076_1079delTTAA Ile359Lysfs*6 Frame shift mutation & PTC 0/Lee et al., 2011